Stoller et al identified a number of reasons why the diagnosis of alpha-1-antitrypsin (A1AT) may be delayed. The authors are from the Cleveland Clinic, Alpha-1 Foundation, St.Luke's-Roosevelt Hospital New York City and the Medical University of South Carolina.

Patient selection: alpha-1-antitrypsin deficiency


The typical patient presents with dyspnea or other pulmonary symptom with or without evidence of liver disease.


Reasons why the diagnosis may be delayed or missed:

(1) female gender

(2) older age (mean age of presentation in early 40's)

(3) provider inexperience with A1AT


Other reasons may include:

(4) asymptomatic or mild disease

(5) alternative explanation for findings available (heavy smoking, etc)

(6) no family history of AIAT

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